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Diagnosis of Hemochromatosis
- Lawrie W. Powell, MD, PhD;
- D. Keith George, MBChB, MRCP; and
- Sharon McDonnell, MD
- The Queensland Institute of Medical Research; Brisbane, Australia (Powell) The Queensland Institute of Medical Research; Brisbane, Australia (George) Centers for Disease Control and Prevention; Atlanta, GA 30333 (McDonnell)
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IN RESPONSE:
Our discussion of the laboratory criteria for hemochromatosis was clearly in the context of an otherwise healthy person or one with clinical features suggestive of the disease. We stated that in this situation “the serum ferritin level defines the point at which hemochromatosis is expressing iron overload and treatment should be initiated.” It is then that the serum ferritin level exquisitely reflects body iron stores. Other conditions can indeed cause an elevation in serum ferritin level out of proportion to iron stores, and we listed inflammation, infection, and cancer because they can complicate hemochromatosis. Renal disease is rare in hemochromatosis, and end-stage renal disease would be entirely unrelated. It is also noteworthy that most studies of chronic renal disease assess body iron stores by bone marrow iron. This is not applicable to hemochromatosis, in which hepatic iron concentration is increased while bone marrow iron stores are normal.
Lawrie W. Powell, MD, PhD
The Queensland Institute of Medical Research; Brisbane, Australia
D. Keith George, MBChB, MRCP
The Queensland Institute of Medical Research; Brisbane, Australia
- Copyright ©2004 by the American College of Physicians
